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Systematic review on outcomes used in clinical research on autosomal recessive polycystic kidney disease—are patient-centered outcomes our blind spot?
BackgroundAutosomal recessive polycystic kidney disease (ARPKD) is a rare severe hepatorenal disease. Survivors of pulmonary hypoplasia and patients...
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Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome
BackgroundWolfram Syndrome is a very rare genetic disease causing diabetes mellitus, blindness, deafness, diabetes insipidus, and progressive...
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Rare disease education in Europe and beyond: time to act
People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with...
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To what degree are orphan drugs patient-centered? A review of the current state of clinical research in rare diseases
BackgroundOver the past 30 years, the healthcare industry has increasingly turned its attention to rare diseases. Regulators have emphasized the need...
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Measuring what matters to rare disease patients – reflections on the work by the IRDiRC taskforce on patient-centered outcome measures
Our ability to evaluate outcomes which genuinely reflect patients’ unmet needs, hopes and concerns is of pivotal importance. However, much current...
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DDIEM: drug database for inborn errors of metabolism
BackgroundInborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or...
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Development of the Myasthenia Gravis (MG) Symptoms PRO: a case study of a patient-centred outcome measure in rare disease
BackgroundMyasthenia gravis (MG) is a chronic autoimmune neuromuscular disease, characterised by fluctuating muscle weakness which makes it...
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The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease
BackgroundThe Italian Clinical network for FSHD (ICNF) has established the Italian National Registry for FSHD (INRF), collecting data from patients...
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Lessons learned from IDeAl — 33 recommendations from the IDeAl-net about design and analysis of small population clinical trials
BackgroundIDeAl (Integrated designs and analysis of small population clinical trials) is an EU funded project develo** new statistical design and...
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Experienced fatigue in people with rare disorders: a sco** review on characteristics of existing research
BackgroundExperienced fatigue is an under-recognized and under-researched feature in persons with many different rare diseases. A better overview of...
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Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases
BackgroundPatient involvement in research increases the impact of research and the likelihood of adoption in clinical practice. A first step is to...
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Rare diseases in Chile: challenges and recommendations in universal health coverage context
Rare diseases (RDs) are a large number of diverse conditions with low individual prevalence, but collectively may affect up to 3.5–5.9% of the...
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Children with a rare congenital genetic disorder: a systematic review of parent experiences
BackgroundCaring for a child with a chronic disease may be demanding and stressful. When a child has a rare condition, the impact of care on parents...
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De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany
BackgroundEstimation of incidence in rare diseases is often challenging due to unspecific and incomplete coding and recording systems. Patient- and...
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A sco** review and proposed workflow for multi-omic rare disease research
BackgroundPatients with rare diseases face unique challenges in obtaining a diagnosis, appropriate medical care and access to support services. Whole...
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Patient involvement in rare diseases research: a sco** review of the literature and mixed method evaluation of Norwegian researchers’ experiences and perceptions
BackgroundPatients’ involvement (PI) in research is recognized as a valuable strategy for increasing the quality, develo** more targeted research...
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Together4RD position statement on collaboration between European reference networks and industry
Notwithstanding two decades of policy and legislation in Europe, aimed to foster research and development in rare conditions, only 5–6% of rare...
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Genetic pain loss disorders
Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory neuropathies and, if autonomic nerves are involved, hereditary...
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TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases
BackgroundMany treatments developed for rare diseases will have an Orphan Medicinal Product (OMP) designation, indicating that they are likely to...
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Share and protect our health data: an evidence based approach to rare disease patients’ perspectives on data sharing and data protection - quantitative survey and recommendations
BackgroundThe needs and benefits of sharing health data to advance scientific research and improve clinical benefits have been well documented in...